The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in t...

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Detalles Bibliográficos
Autores principales: Youssefian, Leila, Vahidnezhad, Hassan, Touati, Andrew, Ziaee, Vahid, Saeidian, Amir Hossein, Pajouhanfar, Sara, Zeinali, Sirous, Uitto, Jouni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970508/
https://www.ncbi.nlm.nih.gov/pubmed/29801470
http://dx.doi.org/10.1186/s12881-018-0581-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970508/
https://www.ncbi.nlm.nih.gov/pubmed/29801470
http://dx.doi.org/10.1186/s12881-018-0581-1

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